Case report: Atopic dermatitis-like skin manifestations in hypohidrotic ectodermal dysplasia caused by a novel splice site mutation of the EDA gene successfully treated with dupilumab
Hypohidrotic ectodermal dysplasia (HED) is a rare disease. Patients with HED present with sparse hair on the head, dysplastic teeth and anhidrosis since childhood, along with atopic dermatitis-like skin manifestations. We report a 20-year-old male HED patient with atopic dermatitis-like skin who was...
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Frontiers Media S.A.
2025-01-01
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| Series: | Journal of Cutaneous Immunology and Allergy |
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| Online Access: | https://www.frontierspartnerships.org/articles/10.3389/jcia.2025.13813/full |
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| author | Eri Uchiyama Kiminobu Takeda Hiroto Ono Akira Shimizu Sumihito Togi Hiroki Ura Yo Niida |
| author_facet | Eri Uchiyama Kiminobu Takeda Hiroto Ono Akira Shimizu Sumihito Togi Hiroki Ura Yo Niida |
| author_sort | Eri Uchiyama |
| collection | DOAJ |
| description | Hypohidrotic ectodermal dysplasia (HED) is a rare disease. Patients with HED present with sparse hair on the head, dysplastic teeth and anhidrosis since childhood, along with atopic dermatitis-like skin manifestations. We report a 20-year-old male HED patient with atopic dermatitis-like skin who was successfully treated with dupilumab. Genetic analysis identified a splicing mutation in the EDA gene, NG_009809.2 (NM_001399.5):c.793 + 3A>C r.742_793del p.Pro248Ilefs Ter15, which has never been reported before. The subject presented to our department because of worsening generalized itching. Based on the distribution of the skin rash, the patient was diagnosed with atopic dermatitis and started on dupilumab. The skin rash became less severe in the third month of treatment. The potential of dupilumab in treating genodermatoses associated with Th2 immunity is known. Although the skin rash is related to atopic dermatitis-like skin manifestations of HED or independent atopic dermatitis is unclear, dupilumab may be a candidate for the treatment of HED with atopic dermatitis skin. |
| format | Article |
| id | doaj-art-27a83e216b8947fbbfa4c946bc914a48 |
| institution | Kabale University |
| issn | 2574-4593 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Journal of Cutaneous Immunology and Allergy |
| spelling | doaj-art-27a83e216b8947fbbfa4c946bc914a482025-01-31T04:11:22ZengFrontiers Media S.A.Journal of Cutaneous Immunology and Allergy2574-45932025-01-01810.3389/jcia.2025.1381313813Case report: Atopic dermatitis-like skin manifestations in hypohidrotic ectodermal dysplasia caused by a novel splice site mutation of the EDA gene successfully treated with dupilumabEri Uchiyama0Kiminobu Takeda1Hiroto Ono2Akira Shimizu3Sumihito Togi4Hiroki Ura5Yo Niida6Department of Dermatology, Kanazawa Medical University, Uchinada, Ishikawa, JapanDepartment of Dermatology, Kanazawa Medical University, Uchinada, Ishikawa, JapanDepartment of Dermatology, Kanazawa Medical University, Uchinada, Ishikawa, JapanDepartment of Dermatology, Kanazawa Medical University, Uchinada, Ishikawa, JapanCenter for Clinical Genomics, Kanazawa Medical University, Uchinada, Ishikawa, JapanCenter for Clinical Genomics, Kanazawa Medical University, Uchinada, Ishikawa, JapanCenter for Clinical Genomics, Kanazawa Medical University, Uchinada, Ishikawa, JapanHypohidrotic ectodermal dysplasia (HED) is a rare disease. Patients with HED present with sparse hair on the head, dysplastic teeth and anhidrosis since childhood, along with atopic dermatitis-like skin manifestations. We report a 20-year-old male HED patient with atopic dermatitis-like skin who was successfully treated with dupilumab. Genetic analysis identified a splicing mutation in the EDA gene, NG_009809.2 (NM_001399.5):c.793 + 3A>C r.742_793del p.Pro248Ilefs Ter15, which has never been reported before. The subject presented to our department because of worsening generalized itching. Based on the distribution of the skin rash, the patient was diagnosed with atopic dermatitis and started on dupilumab. The skin rash became less severe in the third month of treatment. The potential of dupilumab in treating genodermatoses associated with Th2 immunity is known. Although the skin rash is related to atopic dermatitis-like skin manifestations of HED or independent atopic dermatitis is unclear, dupilumab may be a candidate for the treatment of HED with atopic dermatitis skin.https://www.frontierspartnerships.org/articles/10.3389/jcia.2025.13813/fullhypohidrotic ectodermal dysplasia (HED)EDA geneatopic dermatitisdupilumabgenetic analysis |
| spellingShingle | Eri Uchiyama Kiminobu Takeda Hiroto Ono Akira Shimizu Sumihito Togi Hiroki Ura Yo Niida Case report: Atopic dermatitis-like skin manifestations in hypohidrotic ectodermal dysplasia caused by a novel splice site mutation of the EDA gene successfully treated with dupilumab Journal of Cutaneous Immunology and Allergy hypohidrotic ectodermal dysplasia (HED) EDA gene atopic dermatitis dupilumab genetic analysis |
| title | Case report: Atopic dermatitis-like skin manifestations in hypohidrotic ectodermal dysplasia caused by a novel splice site mutation of the EDA gene successfully treated with dupilumab |
| title_full | Case report: Atopic dermatitis-like skin manifestations in hypohidrotic ectodermal dysplasia caused by a novel splice site mutation of the EDA gene successfully treated with dupilumab |
| title_fullStr | Case report: Atopic dermatitis-like skin manifestations in hypohidrotic ectodermal dysplasia caused by a novel splice site mutation of the EDA gene successfully treated with dupilumab |
| title_full_unstemmed | Case report: Atopic dermatitis-like skin manifestations in hypohidrotic ectodermal dysplasia caused by a novel splice site mutation of the EDA gene successfully treated with dupilumab |
| title_short | Case report: Atopic dermatitis-like skin manifestations in hypohidrotic ectodermal dysplasia caused by a novel splice site mutation of the EDA gene successfully treated with dupilumab |
| title_sort | case report atopic dermatitis like skin manifestations in hypohidrotic ectodermal dysplasia caused by a novel splice site mutation of the eda gene successfully treated with dupilumab |
| topic | hypohidrotic ectodermal dysplasia (HED) EDA gene atopic dermatitis dupilumab genetic analysis |
| url | https://www.frontierspartnerships.org/articles/10.3389/jcia.2025.13813/full |
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